Lecture 3

Question 1

Ultrarapid metabolizers examples

Answer 1

1/17
17/17

Question 2

Extensive metabolizer examples (normal)

Answer 2

1/1

Question 3

Intermediate metabolizer examples

Answer 3

1/2

1/3

2/17

Question 4

Poor metabolizer examples

Answer 4

2/2
2/3
3/3

Question 5

A genetic variant can change
PK

Answer 5

(ADME)
-Alters the enzymatic activity during drug ADME
-Directly leads to inter-patient difference in drug

As a consequence, leads to inter-patient difference in toxicity and profiling efficacy

Question 6

A genetic variant can change PD

Answer 6

Alters the drug target activity/property

Create new drug target

Alters structure of the protein

Change drug-receptor binding

Directly leads to inter-patient difference in drug toxicity and efficacy

Question 7

You can only ____ the allele frequency from the population based on the number of ______ observed

Answer 7

Calculate

Genotypes

Question 8

Allele Frequency based on Observed Genotype data: N

Answer 8

of individuals with

Question 9

Allele Frequency based on Observed Genotype data: Q

Answer 9

of people with T/T

Question 10

Allele Frequency based on Observed Genotype data: R

Answer 10

Number of people with T/C

Question 11

Allele Frequency based on Observed Genotype data: S

Answer 11

Number of people with C/C

Question 12

Number of T allele =

Answer 12

2Q + R

then T allele % = (2Q + R)/2N

Question 13

Number of C allele =

Answer 13

2S + R

Then C allele % = (2S+R)/2N

Question 14

Allele % calculation:

Answer 14

Homozygote% + (1/2)Heterozygote %

Question 15

MAF

Answer 15

Minor Allele Frequency (MAF)

Question 16

RAF

Answer 16

Rare Allele Frequency (RAF)

Question 17

A rare allele in one population can be….

Answer 17

a common allele in another population

Question 18

Haplotype

Answer 18

is a group of genes within an organism that were inherited together from a single parent

also refer to the inheritance of a cluster of single nucleotide polymorphisms (SNPs)* which are variations at single positions in the DNA sequence among individuals

Question 19

Linkage Disequilibrium (LD)

Answer 19

Non-Random association of alleles at different loci on the same chromosome

Question 20

no LD

Answer 20

When there are infinite recombination

Question 21

Complete/perfect LD

Answer 21

When there is no recombination

Question 22

Incomplete LD

Answer 22

When recombination occurs in a portion of chromosomes

Question 23

Measures of LD: R2

Answer 23

How strong is the correlation between two variables

Measures the extent of correlation between a pair of variables or the extent of condolence in genotypic association between loci

Question 24

R2 = 0

Answer 24

no LD

Question 25

R2=1

Answer 25

Complete LD/Perfect LD

Question 26

R2 >0.8

Answer 26

Strong LD

Question 27

TagSNP

Answer 27

SNP that can be a representative for other SNPs due to strong LD